电子健康记录研究中不准确的病例定义的影响:来自百万退伍军人计划的黑色素瘤病例研究
Lee Wheless1,2,3, Dominique Mosley4, Daniel Dochtermann5
1Tennessee Valley Healthcare System VA Medical Center, 719 Thompson Lane, Suite 26300, Nashville, TN, 37215, USA. lee.e.wheless@vumc.org.
Archives of dermatological research
|January 24, 2025
概括
在遗传学研究中使用广泛的黑色素瘤病号会增加病例数和已识别的变异. 组织学确认对于精确的全基因组关联研究 (GWAS) 结果至关重要,确保可靠的遗传发现.
科学领域:
- 遗传学 是一个遗传学.
- 流行病学 流行病学
- 生物信息学是一种生物信息学.
背景情况:
- 广泛使用诊断代码定义疾病病例,而不是狭窄地使用黄金标准确认,会对研究结果产生重大影响.
- 大规模的行政数据集往往缺乏黄金标准的确认,需要仔细考虑遗传研究中的病例定义方法.
研究的目的:
- 评估使用黑色素瘤发病号与组织学确认对全基因组关联研究 (GWAS) 结果的影响.
- 为了比较百万退伍军人计划中不同黑色素瘤病例定义中的显著变异数量和样本大小.
主要方法:
- 进行了全基因组关联研究 (GWAS),对黑色素瘤病例进行了表征,组织学确认的侵袭性黑色素瘤和组织学确认的现场黑色素瘤.
- 在百万退伍军人计划队列中,分析的变异与小等位基因频率为1%或以上的变异.
- 在不同病例定义队列之间比较了全基因组显著变异数量和复制率.
主要成果:
- 发病代码队列 (45,665例) 确定了20457个全基因组显著变异.
- 经组织学确认的侵袭性黑色素瘤 (5364例) 产生了2582个显著变异,现场黑色素瘤 (4792例) 产生了1989个显著变异.
- 使用fecode识别的大多数变异在组织学确认的队列中没有复制,这表明存在显著的差异.
结论:
- 不同的黑色素瘤病例定义导致样本大小和相关遗传变异数量的大幅变化.
- 未经验证和不精确的案例定义,如广泛的病例编码,可能会导致遗传研究中不那么准确和不可复制的结果.
- 经过验证的表型对于准确的结果至关重要,特别是当大型数据集无法获得黄金标准确认时.
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